Canonical Allele Identifier: CA2574736143
Gene: CTSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753758A>C , CM000673.2:g.1753758A>C GRCh38
NC_000011.9:g.1774988A>C , CM000673.1:g.1774988A>C GRCh37
NC_000011.8:g.1731564A>C NCBI36
NG_008655.1:g.15235T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1071+45T>G MANE Select ENSP00000236671.2:n.1071+45T>G
ENST00000367196.4:c.966+45T>G ENSP00000356164.4:n.966+45T>G
ENST00000427721.3:c.496+45T>G
ENST00000429746.2:c.966+45T>G ENSP00000402586.2:n.966+45T>G
ENST00000433655.6:c.*237+45T>G ENSP00000404902.1:n.*237+45T>G
ENST00000438213.6:c.1188+45T>G ENSP00000415036.2:n.1188+45T>G
ENST00000497544.3:n.779+45T>G
ENST00000636397.1:c.1071+45T>G ENSP00000489910.1:n.1071+45T>G
ENST00000636571.1:c.1050+45T>G ENSP00000490770.1:n.1050+45T>G
ENST00000636579.1:c.72+45T>G ENSP00000490489.1:n.72+45T>G
ENST00000636615.1:c.1071+45T>G ENSP00000490014.1:n.1071+45T>G
ENST00000636843.1:c.1065+45T>G ENSP00000490897.1:n.1065+45T>G
ENST00000637158.1:n.669+45T>G
ENST00000637381.2:n.3499+45T>G
ENST00000637387.1:c.1050+45T>G ENSP00000490598.1:n.1050+45T>G
ENST00000637815.2:c.1053+45T>G ENSP00000490344.1:n.1053+45T>G
ENST00000637915.1:c.1071+45T>G ENSP00000490471.1:n.1071+45T>G
ENST00000637937.1:n.379+45T>G
ENST00000678991.1:c.*932+45T>G ENSP00000503019.1:n.*932+45T>G
ENST00000236671.6:c.1071+45T>G ENSP00000236671.2:n.1071+45T>G
ENST00000427721.2:c.471+45T>G ENSP00000415840.2:n.471+45T>G
ENST00000429746.1:c.402+45T>G ENSP00000402586.1:n.402+45T>G
ENST00000433655.5:c.*237+45T>G ENSP00000404902.1:n.*237+45T>G
NM_001909.4:c.1071+45T>G NP_001900.1:n.1071+45T>G
NM_001909.5:c.1071+45T>G MANE Select NP_001900.1:n.1071+45T>G